Amicus Therapeutics, Inc.

Universitéde Montreal

Kenneth Valenzano

Richie Khanna

John R Flanagan

John Crowley

Susan Elizabeth Fowles

Robert E Boyd

Jian-Qiang Fan

Brandon Alan Wustman

Gary Lee

Michel Bouvier

Patricia René

The present application provides for compositions comprising high concentrations of acid α-glucosidase in combination with an active site-specific chaperone for the acid α-glucosidase, and methods for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an acid α-glucosidase enzyme formulation.

High concentration alpha-glucosidase compositions for the treatment of Pompe disease

The present application provides for compositions comprising high concentrations of acid a-glucosidase in combination with an active site-specific chaperone for the acid &#x3b1;-glucosidase, and methods for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an acid &#x3b1;-glucosidase enzyme formulation.

High concentration alpha-glucosidase compositions for the treatment of pompe disease

The present application provides for compositions comprising &#x3b1;-galactosidase A in combination with an active site-specific chaperone for the &#x3b1;-galactosidase A, and methods for treating Fabry disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an &#x3b1;-galactosidase A enzyme formulation.

&#x3b1;-galactosidase A and 1-deoxygalactonojirimycin co-formulation

The present application provides compositions comprising &#x3b1;-galactosidase A in combination with an active site-specific chaperone for the &#x3b1;-galactosidase A, and methods for treating Fabry disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an &#x3b1;-galactosidase A enzyme formulation. The present application also provides methods for treating Fabry disease using intravenous administration of 1-deoxygalactonojirimycin.

Alpha-galactosidase A and 1-deoxygalactonojirimycin co-formulation for the treatment of fabry disease

The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.

Pharmacological chaperones for treating obesity

The present invention relates to a method for treating an individual having Cerebral Amyloid Angiopathy by using pharmacological chaperones to increase the activity of gangliosidase and/or sialidase enzymes involved in ganglioside catabolism.

Method for treating cerebral amyloid angiopathy using pharmacological chaperones to increase the activity of gangliosidases

The present application provides for compositions comprising high concentrations of acid &#x3b1;-glucosidase in combination with an active site-specific chaperone for the acid &#x3b1;-glucosidase, and methods for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an acid &#x3b1;-glucosidase enzyme formulation.

High concentration &#x3b1;-glucosidase compositions for the treatment of Pompe disease

The present invention relates to a method for treating an individual having Alzheimer's Disease by using pharmacological chaperones to increase the activity of gangliosidase and/or sialidase enzymes involved in ganglioside catabolism.

Growing community of inventors

East Brunswick, NJ, United States of America

Kenneth Valenzano